Mutagenetix > Incidental Mutation

Incidental Mutation 'R8059:Abcg3'

619591

Institutional Source

Beutler Lab

Gene Symbol

Abcg3

Ensembl Gene

ENSMUSG00000029299

Gene Name

ATP binding cassette subfamily G member 3

Synonyms

Mxr2, Abcp2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R8059 (G1)

Quality Score

222.009

Status

Validated

Chromosome

Chromosomal Location

104935057-104982718 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 104953082 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000031239 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031239] [ENSMUST00000130644]

AlphaFold

Q99P81

Predicted Effect

probably null
Transcript: ENSMUST00000031239

SMART Domains

Protein: ENSMUSP00000031239
Gene: ENSMUSG00000029299

Domain	Start	End	E-Value	Type
Pfam:ABC_tran	64	207	5.9e-9	PFAM
Pfam:ABC2_membrane	367	578	1.8e-29	PFAM
transmembrane domain	623	642	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000130644

SMART Domains

Protein: ENSMUSP00000120179
Gene: ENSMUSG00000029299

Domain	Start	End	E-Value	Type
Pfam:ABC_tran	64	207	7.6e-9	PFAM
transmembrane domain	386	408	N/A	INTRINSIC
Pfam:ABC2_membrane	414	548	1.9e-17	PFAM

Meta Mutation Damage Score

0.9490

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (58/58)

MGI Phenotype

FUNCTION: The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. It lacks several highly conserved residues found in other ATP-binding proteins; this suggests that this protein may not bind ATP and may require dimerization with another subunit to form a functional ATP-transporter. The function of this gene has not yet been determined; however, high levels of expression in the thymus and spleen suggest a potential role in the transport of specific peptides or hydrophobic compounds from lymphocytes. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,373,279	M3372K	probably benign	Het
Adam19	G	A	11: 46,136,466		probably benign	Het
Adgrg6	G	T	10: 14,469,050	T53K	probably damaging	Het
Ccdc141	A	C	2: 77,044,751	L705R	probably damaging	Het
Cep78	A	T	19: 15,981,512	V156E	probably benign	Het
Cers2	A	G	3: 95,322,671	D342G	probably damaging	Het
Chl1	T	A	6: 103,674,987	I272N	probably damaging	Het
Defb30	A	G	14: 63,035,934	*77Q	probably null	Het
Dnm3	A	G	1: 162,084,139	V63A	probably damaging	Het
Dsc2	C	T	18: 20,032,274	G881R	possibly damaging	Het
Entpd2	G	T	2: 25,398,084	V107L	probably damaging	Het
Hectd1	T	A	12: 51,790,378	H799L	possibly damaging	Het
Hira	T	C	16: 18,912,151	V200A	probably damaging	Het
Hspd1	T	C	1: 55,081,724	K269E	possibly damaging	Het
Kcnj4	T	C	15: 79,484,802	S326G	probably benign	Het
Kctd19	T	G	8: 105,396,351	I144L	probably benign	Het
Lama4	T	C	10: 38,966,061	I36T	probably benign	Het
Lrrn3	T	C	12: 41,454,217	T34A	probably benign	Het
Maml3	A	G	3: 51,856,689	S285P	probably damaging	Het
Man2b2	A	G	5: 36,816,160	Y492H	probably damaging	Het
Mapk10	G	T	5: 102,966,612	N303K	probably damaging	Het
Matn2	C	T	15: 34,345,335	R163C	probably damaging	Het
Mtmr7	C	T	8: 40,581,522	A253T	probably damaging	Het
Naca	C	T	10: 128,040,503	P468L	unknown	Het
Nckap1l	T	C	15: 103,493,287	S1084P	possibly damaging	Het
Nek11	T	C	9: 105,162,974	*629W	probably null	Het
Nfkb1	C	T	3: 135,593,852	A731T	possibly damaging	Het
Nop2	T	C	6: 125,140,812	V442A	probably damaging	Het
Oaz2	C	T	9: 65,689,143	P163L	probably damaging	Het
Olfr1056	A	G	2: 86,355,962	V140A	probably benign	Het
Olfr214	C	T	6: 116,556,473	T16I	possibly damaging	Het
Olfr480	T	C	7: 108,066,016	T231A	probably benign	Het
Pabpc2	A	T	18: 39,774,822	N380I	probably benign	Het
Pax3	T	C	1: 78,103,366	D461G	probably benign	Het
Pds5b	G	T	5: 150,807,835	R1443L	unknown	Het
Per1	G	A	11: 69,106,483	R828H	probably damaging	Het
Phlpp2	T	A	8: 109,895,557	S144T	probably benign	Het
Plod1	A	T	4: 147,928,484	I207N	probably damaging	Het
Psmc6	A	T	14: 45,340,803	I208F	probably damaging	Het
Rev3l	T	C	10: 39,843,495	S2494P	probably damaging	Het
Rgs3	T	C	4: 62,602,977		probably benign	Het
Rtraf	T	C	14: 19,822,563		probably benign	Het
Slc17a6	T	A	7: 51,645,044	N166K	probably damaging	Het
Slc18a2	A	T	19: 59,284,140	T348S	probably benign	Het
Slc39a8	G	T	3: 135,826,586	A39S	probably benign	Het
Slc8a3	C	T	12: 81,202,258	G799S	probably damaging	Het
Sp1	T	G	15: 102,407,902	S46R	possibly damaging	Het
Spta1	A	G	1: 174,218,370		probably benign	Het
Stab1	G	A	14: 31,160,241	P499L	probably benign	Het
Tmem57	A	T	4: 134,828,048	C371*	probably null	Het
Trav21-dv12	C	A	14: 53,876,721	D99E	probably damaging	Het
Trpv6	T	G	6: 41,624,586	I467L	probably benign	Het
Ttc41	A	G	10: 86,712,978	Y12C	probably benign	Het
Vmn1r233	T	C	17: 20,994,436	N84S	probably benign	Het
Vrtn	T	C	12: 84,649,916	F480S	probably benign	Het
Wdr63	C	G	3: 146,046,673	R749S	possibly damaging	Het
Zc3h13	C	G	14: 75,327,810	R788G	unknown	Het

Other mutations in Abcg3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00820:Abcg3	APN	5	104936012	missense	probably benign	0.02
IGL01363:Abcg3	APN	5	104948362	missense	possibly damaging	0.55
IGL02097:Abcg3	APN	5	104961186	missense	possibly damaging	0.77
IGL02554:Abcg3	APN	5	104969452	missense	possibly damaging	0.48
IGL02561:Abcg3	APN	5	104977670	missense	probably benign	0.18
IGL02974:Abcg3	APN	5	104968263	missense	probably damaging	1.00
IGL03058:Abcg3	APN	5	104961246	missense	probably benign	0.00
IGL03153:Abcg3	APN	5	104974765	splice site	probably benign
IGL03377:Abcg3	APN	5	104948390	missense	probably benign	0.01
R0110:Abcg3	UTSW	5	104977616	missense	probably damaging	0.97
R0469:Abcg3	UTSW	5	104977616	missense	probably damaging	0.97
R0510:Abcg3	UTSW	5	104977616	missense	probably damaging	0.97
R0530:Abcg3	UTSW	5	104936054	missense	probably damaging	1.00
R0579:Abcg3	UTSW	5	104974103	missense	probably damaging	1.00
R1237:Abcg3	UTSW	5	104948357	missense	probably damaging	0.96
R1505:Abcg3	UTSW	5	104951565	missense	probably damaging	1.00
R1627:Abcg3	UTSW	5	104936014	missense	probably benign	0.00
R1717:Abcg3	UTSW	5	104963555	nonsense	probably null
R1797:Abcg3	UTSW	5	104939164	missense	possibly damaging	0.66
R1899:Abcg3	UTSW	5	104938199	missense	probably damaging	0.99
R1974:Abcg3	UTSW	5	104963638	missense	probably benign	0.01
R2136:Abcg3	UTSW	5	104966814	missense	probably benign	0.04
R2285:Abcg3	UTSW	5	104939171	missense	probably damaging	1.00
R3880:Abcg3	UTSW	5	104938180	splice site	probably benign
R4242:Abcg3	UTSW	5	104961213	missense	probably benign
R4738:Abcg3	UTSW	5	104973983	missense	probably benign
R5225:Abcg3	UTSW	5	104966783	missense	probably damaging	1.00
R5309:Abcg3	UTSW	5	104936599	missense	possibly damaging	0.53
R5704:Abcg3	UTSW	5	104968170	missense	probably damaging	0.96
R5705:Abcg3	UTSW	5	104968170	missense	probably damaging	0.96
R5785:Abcg3	UTSW	5	104968170	missense	probably damaging	0.96
R6155:Abcg3	UTSW	5	104963644	missense	probably benign	0.00
R6309:Abcg3	UTSW	5	104969393	critical splice donor site	probably null
R6814:Abcg3	UTSW	5	104935994	missense	probably benign
R6872:Abcg3	UTSW	5	104935994	missense	probably benign
R6916:Abcg3	UTSW	5	104974735	missense	probably benign	0.16
R7217:Abcg3	UTSW	5	104939228	missense	possibly damaging	0.75
R7310:Abcg3	UTSW	5	104966766	missense	probably benign	0.01
R7343:Abcg3	UTSW	5	104968234	missense	probably benign	0.00
R7401:Abcg3	UTSW	5	104966774	missense	probably damaging	0.99
R7531:Abcg3	UTSW	5	104977641	missense	probably benign
R7685:Abcg3	UTSW	5	104968215	missense	probably damaging	1.00
R7728:Abcg3	UTSW	5	104936078	missense	probably benign	0.00
R7819:Abcg3	UTSW	5	104977728	missense	probably benign	0.05
R7942:Abcg3	UTSW	5	104939161	missense	probably damaging	1.00
R9181:Abcg3	UTSW	5	104974096	missense	probably benign
R9529:Abcg3	UTSW	5	104974107	missense	probably damaging	1.00
R9641:Abcg3	UTSW	5	104936617	missense	probably benign
X0022:Abcg3	UTSW	5	104948416	missense	probably benign	0.02
X0026:Abcg3	UTSW	5	104938189	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGAGCTGCAGTTACCTCTG -3'
(R):5'- TCTACAGAGCAAGCTATGTTGGG -3'

Sequencing Primer
(F):5'- GAATTCCCACATGTTTCTGCAG -3'
(R):5'- GTTGGGAGAAAACTGTCCTAACTTG -3'

Posted On

2020-01-23